Spectrum and prevalence of <i>BRCA</i>1 and <i>BRCA</i>2 germline mutations in Sardinian patients with breast carcinoma through hospital‐based screening

Palomba, Grazia; Pisano, Marina; Cossu, Antonio; Budroni, Mario; Dedola, Maria Filomena; Farris, A.; Contu, A.; Baldinu, Paola; Tanda, Francesco; Palmieri, Giuseppe

doi:10.1002/cncr.21298

Cited by 24 publications

(26 citation statements)

References 38 publications

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“…However, this frequency is in line with other Italian population studies [6][7][8][9]. Furthermore, many of our BRCA1/2 mutations have previously been reported to be either neutral or of unknown function, and for this reason less than 10% of HBOC families who were carriers of a deleterious BRCA1/2 mutation could be given an accurate estimate of their familial risk.…”

Section: Resultssupporting

confidence: 78%

“…Those meeting the stringent family selection criteria for HBOC were then tested for the presence of BRCA1/2 mutations. Several recent studies have summarized the genetic alterations in hereditary breast cancer for different regional Italian populations [6][7][8][9]. Here we report on the prevalence of BRCA1/2 germline mutations in HBOC families in North-Central Italy.…”

Section: Introductionmentioning

confidence: 92%

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Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

Seymour

Casadei

Zampiga

et al. 2007

Breast Cancer Res Treat

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BRCA1/2 mutation status is of paramount importance to identify families at risk of Hereditary Breast and Ovarian Cancer (HBOC). Most HBOC and BRCA1/2 mutation studies have focused on highly selected sub-populations, and few data are available for large population cohorts. For this reason, as part of a regional cancer prevention strategy in North-Central Italy, we set up a population-based screening programme to identify all resident HBOC families, and to determine their BRCA1/2 mutation status. To date, 44 different BRCA1/2 variants have been identified in 55 HBOC families. Of the seven newly reported mutations, only BRCA1 Q284X is clearly deleterious. The analysis of clinical disease characteristics in relation to age of disease onset and family history showed a difference between BRCA1/2 wild type and mutation carrier families. Interestingly, BRCA1/2 mutations were significantly more common in women who developed breast cancer

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Section: Resultssupporting

confidence: 78%

Section: Introductionmentioning

confidence: 92%

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

Seymour

Casadei

Zampiga

et al. 2007

Breast Cancer Res Treat

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“…Mutation (917delTT) was first described in two unrelated French families (Muller et al, 2004), then it was reported in Spain (John et al, 2007) and in Italy (Palomba et al, 2005). This mutation was also found in four Algerian families (Uhrhammer et al, 2008;Cherbal et al, 2010), three unrelated Tunisian families (Mahfoudh et al, 2011) and recently in a Moroccan patients (Tazzite et al, 2012;Laraqui et al, 2013) .…”

Section: C798_799delttmentioning

confidence: 88%

Breast Cancer in Morocco: A Literature Review

Slaoui¹,

Rachid²,

Ibrahimi³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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In Morocco, breast cancer is the most prevalent cancer in women and a major public health problem. Several Moroccan studies have focused on studying this disease, but more are needed, especially at the genetic and molecular levels. It is therefore interesting to establish the genetic and molecular profile of Moroccan patients with breast cancer. In this paper, we will highlight some pertinent hypotheses that may enhance breast cancer care in Moroccan patients. This review will give a precise description of breast cancer in Morocco and propose some new markers for detection and prediction of breast cancer prognosis.

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“…In Sweden, 34% of high-risk families carry BRCA1 mutations, but only 2% carry BRCA2 mutations 46 . By contrast, 32% of high-risk Sardinian families carry mutations in BRCA2, and 11%, mutations in BRCA1 47 . Interestingly, dna microarray and immunohistochemical analyses revealed that 80%-90% of breast cancers in women with germ-line mutations in BRCA1 are triple-negative (er-, pgr-, her2-) 26,48-52 .…”

Section: Triple-negative and Brca-mutant Tumour Cellsmentioning

confidence: 94%

Triple-Negative Breast Cancers: An Updated Review on Treatment Options

Reddy¹

2011

Current Oncology

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grade (severity). Identification of molecular markers such as expression of the estrogen (er) and progesterone receptors (pgr) and the human epidermal growth factor receptor 2 (her2) has offered additional predictive value for the therapeutic assessment of women diagnosed with breast cancer [1][2][3][4] . More recently, gene expression analysis using dna microarray technology has identified additional breast tumour subtypes that were not apparent using traditional histopathologic methods. Based on gene expression profiles, breast cancer can be classified into 5 main groups 5-8 :• Normal breast-like [6][7][8][9] Most breast cancers originate from the inner ("luminal") cells that line the mammary ducts. Luminal A and luminal B tumours are similar in that both are typically er+ or pgr+, or both. However, they are dissimilar in that the A type is usually her2-and the B type is more likely to be her2+ and lymph node-positive.Women with luminal A tumours are often diagnosed at a younger age. They tend to have the best prognosis, with relatively high rates of overall survival and relatively low rates of recurrence. Those with luminal B tumours tend to have a higher tumour grade and a poorer prognosis 10,11 (Table i).Basal-like tumours originate in the outer ("basal") cells that line the mammary ducts. Their incidence has been estimated to be between 13% and 25% 12-14 . These tumours are diagnosed more frequently among younger women and are associated with hereditary BRCA1-related breast cancers. They are often aggressive [15][16][17] and are associated with a prognosis poorer than those for the luminal A, luminal B, and normal breast-like types 11,16 . Metastatically, they seems to disseminate to the axillary nodes and, less frequently, to bone 18 . In a population-based study, basal-like breast cancer was suggested to be more prevalent ABSTRACTMorphologic features of tumour cells have long been validated for the clinical classification of breast cancers and are regularly used as a "gold standard" to ascertain prognostic outcome in patients. Identification of molecular markers such as expression of the receptors for estrogen (er) and progesterone (pgr) and the human epidermal growth factor receptor 2 (her2) has played an important role in determining targets for the development of efficacious drugs for treatment and has also offered additional predictive value for the therapeutic assessment of patients with breast cancer. More recent technical advancements in identifying several cancer-related genes have provided further opportunities to identify specific subtypes of breast cancer. Among the subtypes, tumours with triplenegative cells are identified using specific staining procedures for basal markers such as cytokeratin 5 and 6 and the absence of er, pgr, and her2 expression. Patients with triple-negative breast cancers therefore have the disadvantage of not benefiting from currently available receptor-targeted systemic therapy. Optimal conditions for the therapeutic assessment of women with triple-negative breast tum...

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Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital‐based screening

Abstract: BACKGROUND.Factors that are predictive of carrying BRCA1 and BRCA2 germline

Cited by 24 publications

References 38 publications

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations

Breast Cancer in Morocco: A Literature Review

Triple-Negative Breast Cancers: An Updated Review on Treatment Options

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